Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.A2046V
Back to variants list

CREBBP

NM_004380.3:p.A2046V

Associated Papers

Interstitial lung disease in children with Rubinstein-Taybi syndrome.

Bradford L et al.

Pediatric Pulmonology, 2022

Durable benefit from immunotherapy and accompanied lupus erythematosus in pancreatic adenocarcinoma with DNA repair deficiency.

Pang X et al.

Journal for Immunotherapy of Cancer, 2020

32636238 (PubMed )
Supplement: jitc-2019-000463supp001.pdf

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.

Yuan B et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Koyama T et al.

Bmc Cancer, 2019

30709382 (PubMed )
Supplement: 12885_2019_5313_MOESM2_ESM.xlsx › supplementary_2_filtered
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."